GLUTARIC ACIDURIA TYPE-I - CLINICAL HETEROGENEITY AND NEURORADIOLOGICAL FEATURES

被引：69
作者：
AMIR, N
ELPELEG, O
SHALEV, RS
CHRISTENSEN, E
机构：
[1] BIKUR CHOLIM HOSP,DEPT PEDIAT,JERUSALEM,ISRAEL
[2] RIGSHOSP,METAB LAB,CLIN GENET SECT,DK-2100 COPENHAGEN O,DENMARK
来源：
NEUROLOGY | 1987年 / 37卷 / 10期
关键词：
D O I：
10.1212/WNL.37.10.1654
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：1654 / 1657
页数：4
相关论文
共 19 条
  • [1] AICARDI J, 1985, DEV MED CHILD NEUROL, V27, P401
  • [2] TREATMENT OF GLUTARYL-COA DEHYDROGENASE-DEFICIENCY (GLUTARIC ACIDURIA) - EXPERIENCE WITH DIET, RIBOFLAVIN, AND GABA ANALOG
    BRANDT, NJ
    GREGERSEN, N
    CHRISTENSEN, E
    GRON, IH
    RASMUSSEN, K
    [J]. JOURNAL OF PEDIATRICS, 1979, 94 (04) : 669 - 673
  • [3] BRANDT NJ, 1978, CLIN GENET, V13, P77
  • [4] IMPROVED ASSAY OF GLUTARYL-COA DEHYDROGENASE IN CULTURED-CELLS AND LIVER - APPLICATION TO GLUTARIC ACIDURIA TYPE-I
    CHRISTENSEN, E
    [J]. CLINICA CHIMICA ACTA, 1983, 129 (01) : 91 - 97
  • [5] URINARY-EXCRETION OF SUCCINYLACETONE AND DELTA-AMINOLEVULINIC-ACID IN PATIENTS WITH HEREDITARY TYROSINEMIA
    CHRISTENSEN, E
    JACOBSEN, BB
    GREGERSEN, N
    HJEDS, H
    PEDERSEN, JB
    BRANDT, NJ
    BAEKMARK, UB
    [J]. CLINICA CHIMICA ACTA, 1981, 116 (03) : 331 - 341
  • [6] GLUTARIC ACIDURIA TYPE-I PRESENTING WITH HYPOGLYCEMIA
    DUNGER, DB
    SNODGRASS, GJAI
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1984, 7 (03) : 122 - 124
  • [7] FLORET D, 1979, ARCH FR PEDIATR, V36, P462
  • [8] GLUTARIC ACIDURIA - NEW DISORDER OF AMINO-ACID METABOLISM
    GOODMAN, SI
    MARKEY, SP
    MOE, PG
    MILES, BS
    TENG, CC
    [J]. BIOCHEMICAL MEDICINE, 1975, 12 (01): : 12 - 21
  • [9] GOODMAN SI, 1985, INHERITED DISEASES A, P383
  • [10] GLUTARIC-ACIDURIA - CLINICAL AND LABORATORY FINDINGS IN 2 BROTHERS
    GREGERSEN, N
    BRANDT, NJ
    CHRISTENSEN, E
    GRON, I
    RASMUSSEN, K
    BRANDT, S
    [J]. JOURNAL OF PEDIATRICS, 1977, 90 (05) : 740 - 745
12